Charcot-Marie-Tooth disease
Findings
No curated finding names Charcot-Marie-Tooth disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.
Definition from the Mondo Disease Ontology (MONDO:0015626), read 2026-09-29. CC BY 4.0.
Genes
21 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNM2HGNC:2974
- Definitive · ClinGen · Autosomal dominant · 2020
- EGR2HGNC:3239
- Definitive · ClinGen · Semidominant · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- FGD4HGNC:19125
- Definitive · ClinGen · Autosomal recessive · 2020
- FIG4HGNC:16873
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · Illumina · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- GDAP1HGNC:15968
- Definitive · ClinGen · Semidominant · 2020
Where it sits
- A kind of
- Narrower terms (24)
- Charcot-Marie-Tooth disease type 1
- Charcot-Marie-Tooth disease type 2
- Charcot-Marie-Tooth disease type 3
- Charcot-Marie-Tooth disease type 4
- Charcot-Marie-Tooth disease type X
- Charcot-Marie-Tooth disease with ptosis and parkinsonism
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
- Charcot-Marie-Tooth disease, axonal, IIa 2II
- Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
- Charcot-Marie-Tooth disease, axonal, type 2FF
- Charcot-Marie-Tooth disease, axonal, Type 2HH
- Charcot-Marie-tooth disease, axonal, type 2JJ
- Charcot-Marie-Tooth disease, axonal, type 2KK
- Charcot-Marie-Tooth disease, axonal, type 2LL
- charcot-marie-tooth disease, axonal, type 2MM
- Charcot-Marie-Tooth disease, demyelinating, IIA 1H
- Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease
- Also called
- Charcot Marie Tooth muscular atrophyCharcot-Marie-Tooth hereditary neuropathyCMTCMT/HMSNperoneal muscular atrophy